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Mary P. Bronner - One of the best experts on this subject based on the ideXlab platform.

  • first report of ovarian dysgerminoma in cowden syndrome with germline pten mutation and pten related 10q loss of tumor heterozygosity
    The American Journal of Surgical Pathology, 2008
    Co-Authors: Seong Joon Kang, Sang Yeop Yi, Mary P. Bronner
    Abstract:

    We present the first report of ovarian dysgerminoma in Cowden syndrome, presenting in a 7-year-old girl. In her second decade, a hamartomatous soft tissue extremity mass and diffuse gastrointestinal hamartomatous polyposis with pathologic features suggestive of either juvenile, Peutz-Jeghers, or Cowden polyps were identified, along with diffuse esophageal Glycogenic Acanthosis and skin manifestations. During regular thyroid cancer surveillance under the provisional diagnosis of Cowden syndrome, papillary thyroid carcinoma and benign follicular nodules were diagnosed at age 23. PTEN mutational analysis revealed a novel germline nonsense point mutation of Q219X. Loss of PTEN heterozygosity was also present in the ovarian dysgerminoma. Parental mutation testing and phenotype screening were negative. The correct classification of Cowden syndrome is difficult because of its protean manifestations and overlapping phenotypes with other genetic and noninherited pathologies, particularly regarding various gastrointestinal polyposis syndromes. Despite the challenges, correct classification is critical to patient care because of the associated cancer predispositions and necessary surveillance programs. This is the first report of Cowden syndrome presenting with ovarian dysgerminoma, which implicates PTEN in the molecular pathogenesis of dysgerminoma and adds it to the phenotypic manifestations of Cowden syndrome.

  • first report of ovarian dysgerminoma in cowden syndrome with germline pten mutation and pten related 10q loss of tumor heterozygosity
    The American Journal of Surgical Pathology, 2008
    Co-Authors: Seong Joon Kang, Sang Yeop Yi, Mary P. Bronner
    Abstract:

    We present the first report of ovarian dysgerminoma in Cowden syndrome, presenting in a 7-year-old girl. In her second decade, a hamartomatous soft tissue extremity mass and diffuse gastrointestinal hamartomatous polyposis with pathologic features suggestive of either juvenile, Peutz-Jeghers, or Cowden polyps were identified, along with diffuse esophageal Glycogenic Acanthosis and skin manifestations. During regular thyroid cancer surveillance under the provisional diagnosis of Cowden syndrome, papillary thyroid carcinoma and benign follicular nodules were diagnosed at age 23. PTEN mutational analysis revealed a novel germline nonsense point mutation of Q219X. Loss of PTEN heterozygosity was also present in the ovarian dysgerminoma. Parental mutation testing and phenotype screening were negative. The correct classification of Cowden syndrome is difficult because of its protean manifestations and overlapping phenotypes with other genetic and noninherited pathologies, particularly regarding various gastrointestinal polyposis syndromes. Despite the challenges, correct classification is critical to patient care because of the associated cancer predispositions and necessary surveillance programs. This is the first report of Cowden syndrome presenting with ovarian dysgerminoma, which implicates PTEN in the molecular pathogenesis of dysgerminoma and adds it to the phenotypic manifestations of Cowden syndrome.

Seong Joon Kang - One of the best experts on this subject based on the ideXlab platform.

  • first report of ovarian dysgerminoma in cowden syndrome with germline pten mutation and pten related 10q loss of tumor heterozygosity
    The American Journal of Surgical Pathology, 2008
    Co-Authors: Seong Joon Kang, Sang Yeop Yi, Mary P. Bronner
    Abstract:

    We present the first report of ovarian dysgerminoma in Cowden syndrome, presenting in a 7-year-old girl. In her second decade, a hamartomatous soft tissue extremity mass and diffuse gastrointestinal hamartomatous polyposis with pathologic features suggestive of either juvenile, Peutz-Jeghers, or Cowden polyps were identified, along with diffuse esophageal Glycogenic Acanthosis and skin manifestations. During regular thyroid cancer surveillance under the provisional diagnosis of Cowden syndrome, papillary thyroid carcinoma and benign follicular nodules were diagnosed at age 23. PTEN mutational analysis revealed a novel germline nonsense point mutation of Q219X. Loss of PTEN heterozygosity was also present in the ovarian dysgerminoma. Parental mutation testing and phenotype screening were negative. The correct classification of Cowden syndrome is difficult because of its protean manifestations and overlapping phenotypes with other genetic and noninherited pathologies, particularly regarding various gastrointestinal polyposis syndromes. Despite the challenges, correct classification is critical to patient care because of the associated cancer predispositions and necessary surveillance programs. This is the first report of Cowden syndrome presenting with ovarian dysgerminoma, which implicates PTEN in the molecular pathogenesis of dysgerminoma and adds it to the phenotypic manifestations of Cowden syndrome.

  • first report of ovarian dysgerminoma in cowden syndrome with germline pten mutation and pten related 10q loss of tumor heterozygosity
    The American Journal of Surgical Pathology, 2008
    Co-Authors: Seong Joon Kang, Sang Yeop Yi, Mary P. Bronner
    Abstract:

    We present the first report of ovarian dysgerminoma in Cowden syndrome, presenting in a 7-year-old girl. In her second decade, a hamartomatous soft tissue extremity mass and diffuse gastrointestinal hamartomatous polyposis with pathologic features suggestive of either juvenile, Peutz-Jeghers, or Cowden polyps were identified, along with diffuse esophageal Glycogenic Acanthosis and skin manifestations. During regular thyroid cancer surveillance under the provisional diagnosis of Cowden syndrome, papillary thyroid carcinoma and benign follicular nodules were diagnosed at age 23. PTEN mutational analysis revealed a novel germline nonsense point mutation of Q219X. Loss of PTEN heterozygosity was also present in the ovarian dysgerminoma. Parental mutation testing and phenotype screening were negative. The correct classification of Cowden syndrome is difficult because of its protean manifestations and overlapping phenotypes with other genetic and noninherited pathologies, particularly regarding various gastrointestinal polyposis syndromes. Despite the challenges, correct classification is critical to patient care because of the associated cancer predispositions and necessary surveillance programs. This is the first report of Cowden syndrome presenting with ovarian dysgerminoma, which implicates PTEN in the molecular pathogenesis of dysgerminoma and adds it to the phenotypic manifestations of Cowden syndrome.

Charis Eng - One of the best experts on this subject based on the ideXlab platform.

  • Constipation, polyps, or cancer? Let PTEN predict your future.
    American journal of medical genetics. Part A, 2003
    Co-Authors: Charis Eng
    Abstract:

    The inherited hamartoma polyposis syndromes encompass several distinct clinical syndromes with different genetic bases, Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), juvenile polyposis syndrome (JPS), and Peutz-Jeghers syndrome (PJS). Germline mutations in PTEN, encoding a tumor suppressor phosphatase on 10q23.3, is associated with 80% of CS and 60% of BRRS. JPS is caused by mutations in MADH4 and BMPR1A, encoding two members of the TGFB superfamily. Germline mutations in LKB1 (STK11) are associated with a subset of PJS. The number, distribution, and histologic type of polyps differ amongst these syndromes as do component cancer risks. While rare, usually asymptomatic, hamartomatous polyps are felt to be component to CS. Hamartomatous polyposis is usually prominent and symptomatic in BRRS. Polyposis, which can be quite symptomatic, is a cardinal component feature of PJS and JPS. Interestingly, Glycogenic Acanthosis of the esophagus is highly predictive of CS and the presence of PTEN mutation. PTEN mutation positive CS have been shown to be at increased risk of breast, thyroid, and endometrial cancer. PTEN mutation positive BRRS are at increased risk of at least breast cancer, possibly that of the thyroid as well. In contrast, JPS and PJS have increased risk of gastrointestinal cancers in particular. Thus, molecular-based diagnoses to differentiate each of these syndromes are important for medical management.

  • GI polyposis and Glycogenic Acanthosis of the esophagus associated with PTEN mutation positive Cowden syndrome in the absence of cutaneous manifestations
    The American journal of gastroenterology, 2003
    Co-Authors: Thomas J. Mcgarrity, Maria J. Baker, Francesca Ruggiero, Diane Thiboutot, Heather Hampel, Xiao Ping Zhou, Charis Eng
    Abstract:

    A 62-yr-old man was referred for management of GI polyposis. Large bowel polyps were initially diagnosed >25 yr ago, and the patient had undergone multiple colonoscopies and polypectomies. Personal and family history were notable for thyroid goiter and hypothyroidism. Physical examination was notable for lingular papillomatosis. No cutaneous lesions were seen. Upper endoscopy revealed esophageal glycogen Acanthosis. There were multiple polyps throughout the stomach and the small and large intestines. Histology of these polyps showed multiple cell types including juvenile polyps, inflammatory polyps with fibromuscular proliferation and lamina propria ganglion cells, and focal adenomatous change. A clinical diagnosis of Cowden syndrome was made. Mutation analysis revealed a variant in exon 8 of the PTEN gene. Direct sequencing revealed a germline heterozygous C.892-895InsA, which is predicted to result in a truncated PTEN protein. Cowden syndrome is an underdiagnosed, underrecognized, autosomal dominant, inherited syndrome. For the gastroenterologist, esophageal Acanthosis and multiple hamartomatous polyps should suggest the diagnosis. Sensitive molecular diagnostic tests looking for mutations in the appropriate genes are clinically available. Together with genetic counseling, molecular diagnostic testing will allow more accurate risk assessment and surveillance for cancer for both the patient and family members.

Sang Yeop Yi - One of the best experts on this subject based on the ideXlab platform.

  • first report of ovarian dysgerminoma in cowden syndrome with germline pten mutation and pten related 10q loss of tumor heterozygosity
    The American Journal of Surgical Pathology, 2008
    Co-Authors: Seong Joon Kang, Sang Yeop Yi, Mary P. Bronner
    Abstract:

    We present the first report of ovarian dysgerminoma in Cowden syndrome, presenting in a 7-year-old girl. In her second decade, a hamartomatous soft tissue extremity mass and diffuse gastrointestinal hamartomatous polyposis with pathologic features suggestive of either juvenile, Peutz-Jeghers, or Cowden polyps were identified, along with diffuse esophageal Glycogenic Acanthosis and skin manifestations. During regular thyroid cancer surveillance under the provisional diagnosis of Cowden syndrome, papillary thyroid carcinoma and benign follicular nodules were diagnosed at age 23. PTEN mutational analysis revealed a novel germline nonsense point mutation of Q219X. Loss of PTEN heterozygosity was also present in the ovarian dysgerminoma. Parental mutation testing and phenotype screening were negative. The correct classification of Cowden syndrome is difficult because of its protean manifestations and overlapping phenotypes with other genetic and noninherited pathologies, particularly regarding various gastrointestinal polyposis syndromes. Despite the challenges, correct classification is critical to patient care because of the associated cancer predispositions and necessary surveillance programs. This is the first report of Cowden syndrome presenting with ovarian dysgerminoma, which implicates PTEN in the molecular pathogenesis of dysgerminoma and adds it to the phenotypic manifestations of Cowden syndrome.

  • first report of ovarian dysgerminoma in cowden syndrome with germline pten mutation and pten related 10q loss of tumor heterozygosity
    The American Journal of Surgical Pathology, 2008
    Co-Authors: Seong Joon Kang, Sang Yeop Yi, Mary P. Bronner
    Abstract:

    We present the first report of ovarian dysgerminoma in Cowden syndrome, presenting in a 7-year-old girl. In her second decade, a hamartomatous soft tissue extremity mass and diffuse gastrointestinal hamartomatous polyposis with pathologic features suggestive of either juvenile, Peutz-Jeghers, or Cowden polyps were identified, along with diffuse esophageal Glycogenic Acanthosis and skin manifestations. During regular thyroid cancer surveillance under the provisional diagnosis of Cowden syndrome, papillary thyroid carcinoma and benign follicular nodules were diagnosed at age 23. PTEN mutational analysis revealed a novel germline nonsense point mutation of Q219X. Loss of PTEN heterozygosity was also present in the ovarian dysgerminoma. Parental mutation testing and phenotype screening were negative. The correct classification of Cowden syndrome is difficult because of its protean manifestations and overlapping phenotypes with other genetic and noninherited pathologies, particularly regarding various gastrointestinal polyposis syndromes. Despite the challenges, correct classification is critical to patient care because of the associated cancer predispositions and necessary surveillance programs. This is the first report of Cowden syndrome presenting with ovarian dysgerminoma, which implicates PTEN in the molecular pathogenesis of dysgerminoma and adds it to the phenotypic manifestations of Cowden syndrome.

Masayuki A. Fujino - One of the best experts on this subject based on the ideXlab platform.

  • Glycogenic Acanthosis of the Esophagus—An Analysis of Clinically Relevant Factors (Glycogenic Acanthosis of the Esophagus)
    Digestive Endoscopy, 1993
    Co-Authors: Masahiro Ikeda, Yuichiro Kojima, Toshiya Nakamura, Atsuro Morozumi, Masayuki A. Fujino
    Abstract:

    : Glycogenic Acanthosis (GA) of the esophagus is often found in routine endoscopic examination of the upper GI tract but has not received much attention. However, there is controversy concerning the nature, clinical significance and prevalence of this condition. An endoscopic study of 654 patients studied consecutively revealed a higher incidence of the lesion (72.3%) than previously reported. Its incidence was found to be significantly higher in males (p

  • Glycogenic Acanthosis of the esophagus an analysis of clinically relevant factors Glycogenic Acanthosis of the esophagus
    Digestive Endoscopy, 1993
    Co-Authors: Masahiro Ikeda, Yuichiro Kojima, Toshiya Nakamura, Atsuro Morozumi, Masayuki A. Fujino
    Abstract:

    : Glycogenic Acanthosis (GA) of the esophagus is often found in routine endoscopic examination of the upper GI tract but has not received much attention. However, there is controversy concerning the nature, clinical significance and prevalence of this condition. An endoscopic study of 654 patients studied consecutively revealed a higher incidence of the lesion (72.3%) than previously reported. Its incidence was found to be significantly higher in males (p<0.01). An increasing incidence tendency was observed with respect to age in patients in their twenties to sixcties, but in patients in their seventies the incidence was lower than in those in their sixties, Smoking increased the frequency of GA. Extensive lesions were significantly more prevalent in smokers in their 40's (p<0.01). The number of cigarettes per day had a positive correlation with the incidence. GA did not have a clear relationship with alcohol intake, dietay, habits, condiments or acid reflux. Therefore, age, sex and smoking appear to be risk factors of GA, as in esophageal carcinoma.